G13A (p.Gly13Ala) variant of CACNA1B (Q00975)
G13A (p.Gly13Ala) in CACNA1B (Q00975) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G13A (p.Gly13Ala) variant details
- p.Gly13Ala
- Ensembl rs1956856295
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.58
- MetaLR 0.94
- MetaSVM 1.03
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.02
- Population evidence available
- Structural context available